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Central osteosclerosis with trichothiodystrophy.

Emma L Wakeling·Michele Cruwys·Mohnish Suri·Angela F Brady·Sarah E Aylett·Christine Hall
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Abstract

Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder associated with defects in nucleotide excision repair. We report a 7-year-old boy with TTD due to mutation in the XPD gene. The patient has classic features of this condition, including brittle, sulphur-deficient hair, ichthyosis, growth retardation and developmental delay. In addition, he has radiological evidence of progressive central osteosclerosis. Although similar radiological findings have previously been reported in a small number of patients, this association is not widely recognised. We review the radiological findings in this and other similar cases and discuss the natural history of these bony changes.

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Abnormalities, MultipleChildHair DiseasesHumansIchthyosisMagnetic Resonance ImagingMaleMutationNail DiseasesOsteosclerosisCase ReportsJournal ArticleResearch Support, Non-U.S. Gov't

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Emma L Wakeling, Michele Cruwys, Mohnish Suri, Angela F Brady, Sarah E Aylett, Christine Hall. 2004-05-18. Central osteosclerosis with trichothiodystrophy.. https://doi.org/10.1007/s00247-004-1207-7

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